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Sjögren–Larsson syndrome in Brazil is caused by a common c.1108-1G→C splice-site mutation in the ALDH3A2 gene

✍ Scribed by M.P. Auada; M.B. Puzzi; M.L. Cintra; C.E. Steiner; F. Alexandrino; E.L. Sartorato; T.S. Aguiar; R.D. Azulay; G. Carney; W.B. Rizzo


Book ID
108668694
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
131 KB
Volume
154
Category
Article
ISSN
0007-0963

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The RSH or Smith-Lemli-Opitz syndrome (SLOS) is a relatively common autosomal recessive disorder of cholesterol biosynthesis resulting from a deficiency of the enzyme 7-dehydrocholesterol ⌬7-reductase (7-DHCR). Mutations in 7-DHCR gene cause SLOS. Among these, a G → C transversion in the splice acce